1003389000: Mosaic 1q duplication (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168139015 Mosaic 1q duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168140018 Mosaic 1q duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mosaic 1q duplication	Is a	A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.	false	Inferred relationship	Some
Mosaic 1q duplication	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	1
Mosaic 1q duplication	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
Mosaic 1q duplication	Finding site	Chromosome pair 1	true	Inferred relationship	Some	3
Mosaic 1q duplication	Associated morphology	Partial trisomy	true	Inferred relationship	Some	3
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	3
Mosaic 1q duplication	Is a	Partial trisomy of long arm of chromosome 1 (disorder)	true	Inferred relationship	Some
Mosaic 1q duplication	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Mosaic 1q duplication	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Mosaic 1q duplication	Occurrence	Congenital	true	Inferred relationship	Some	2

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This concept is not in any reference sets